New Diagnosis: Essential Thombocytosis

Messages
65
Likes
99
I had assumed that I had moderate ME/CFS for the past 5 years or so. I haven't had POTS or problems with pain, but I have had disabling fatigue which prevents me from working, orthostatic intolerance, and brain fog from over-exertion. It came on gradually. I'm 65.

Now I've been diagnosed with Essential Thrombocythemia, (ET) a rare blood cancer. I think it is closely related to Mastocytosis. I also tested positive for a mutation in the JAK2 gene (JAK2v617f). Looking back at my health records, I'm sure I've had it for many years. Not everyone who gets ET has severe fatigue. Medical treatment for ET is centered around preventing blood clots (including the kind that cause strokes and heart attacks)

The hematologist who diagnosed me was not interested in hearing about my fatigue. Occasionally the literature for ET will mention fatigue as a common symptom, but if any explanation is given it is depression, deconditioning or "cytokines".

I'm working on my own theory as to why this disease could cause severe fatigue and exercise intolerance. (I will be talking to an expert at the Dana Farber Cancer Center in a few months). The JAK2 mutation can affect the endothelial cells that line the blood vessels. (they originate in the bone marrow!) Even if the endothelial cells are not affected, the platelets and white cells are affected, causing platelet- leukocyte adhesion, changes in NO levels, etc. All of this reminds me of the studies that are looking at endothelial cell dysfunction and problems with microcirculation in ME/CFS and long Covid.

I've read through a number of medical journal articles while lying down, because I've been much worse since the diagnosis, maybe because of the drug I'm taking (hydroxyurea) or maybe from the stress of a new diagnosis. In any case, when I feel better I'll go back to those journal articles and put together some notes on the changes caused by ET, with or without endothelial mutation, and compare it to findings in ME/CFS

As for a differential diagnosis, testing for the JAK2 mutation is usually done using an ordinary blood sample. The mutation is known to cause ET, and a few other diseases. Studies have shown that some people test positive for this mutation who do not have any of these diseases. This mutation is acquired, not inherited, so it will only affect a limited number of cells. And I imagine that determining whether the endothelial cells are affected would be very difficult.
 
Messages
65
Likes
99
How can I tell I've had this for a long time? Every year, when I had my annual physical, the blood tests would show high potassium levels. Then they would have me come back and get retested repeatedly. When the retesting showed a number in the normal range then nothing would happen. At the next physical, the exact same thing would happen. Now I know that ET can cause pseudo-hyperkalemea. I wonder if this is due to the platelet- leukocyte adhesions.